Professor Marcus Pembrey FMedSci

Professor Marcus Pembrey is Professor of Paediatric Genetics at the Institute of Child Health, Great Ormond Street. Professor Pembrey has made important contributions to our understanding of a wide range of important human genetic disorders. In order to explain the unusual pattern of inheritance of Fragile X Syndrome he proposed a dynamic two-stage mechanism in which an asymptomatic premutation progresses to a full mutation and overt disease. Somewhat heretical at the time, this proved a largely correct prediction of what is now a whole class of unstable triplet repeat diseases. He has made equally important contributions to our knowledge of the maternally-imprinted disease, Angelman syndrome.